OBJECTIVE: To determine the prevalence of GJB2 mutations in newborns and provide clinical experience for newborn genetic screening. METHOD: Blood samples of 23 836 newborns in Beijing from March 2012 to December 2013 were screened for hot spot mutations of GJB2 associated with hearing loss. The genetic screening results were comprehensively analyzed with hearing results in genetic counseling. RESULT: One or two pathogenic mutations of GJB2 were spotted in 622(2. 61%) individuals. Among them, numbers of newborns with 1 mutation of c. 35deiG,c. 176191 del16,c. 235delC and c. 299300 delAT were 3,26,467 and 120. One compound heterozygote, and 5 homozygotes were also identified. Five hundred and fifty(88. 6%)newborns were followed up by telephones and SMS (short message service) and 325 newborns visit our genetic clinic regularly which were regarded as the research object. In the hearing screening, the referral rate for hearing loss in the first-step screening was 13.8% (45/325), and became 9.2% (30/325) upon retesting. Nine newborns (2. 8%) were diagnosed as hearing loss of different degrees as early as 3 months old,including 6 homozygous/compound heterozygote and 3 heterozygotes. CONCLUSION Patients with GJB2 mutations have various phenotype. Newborns with homozygous/compound heterozygous GJB2 mutations may pass the hearing screening at first. Carriers of GJB2 may also have hearing problems. The combination of genetic and audiological screening can play an important role in deafness detections of infants before key period of speech development.
Base Sequence ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Follow-Up Studies ; Genetic Testing ; Hearing Loss ; genetics ; Hearing Tests ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Mutation ; Neonatal Screening ; Prevalence

Objective To evaluate the curative effect of arthroscopic surgery for the treatment of first-time shoulder dislocation combined with Bankart lesions.Methods Retrospectively analyzed the clinical data of 35 cases who were admitted into our hospital from June 2015 to October 2016 and underwent arthroscopic surgery for the treatment of first-time shoulder dislocation.All the 35 cases were combined with Bankart lesions,and the lacerated glenoid labrum were repaired with suture anchorsy.The postoperative ASES scroe and Rowe score were adopted for the final evaluation.Results All the 35 cases were followed up for 1 to 6 months,3 months averagely.All the patients had satisfactory shoulder function,with no shoulder dislocation occured again.The ASES score and Rowe score after surgery was better than that before surgery with statistically significant difference(P<0.05).Conclusion Arthroscopic surgery for the treatment of first-time shoulder dislocation combined with Bankart lesions has many advantages such as mini-invasion,rapid recovery and satisfactory outcome in function and motion.

Objective To discuss the clinical effects of arthroscopy combined with Brostrom repair in the treatment for chronic ankle instability talofibular ligament injury.Methods From January 2012 to June 2015,42 cases of chronic ankle instability in our hospital were performed modified Brostrom repair.All the cases were evaluated by AOFAS scoring system.Results All the patients were followed up for 9 to 17 months,an average of (12.7±3.5)months.At the last follow-up,all cases could participate in normal daily running training mission.Activity levels of 2 cases with cartilage injury had a decline than before.The others were able to attend the confrontational training.Postoperative AOFAS score(88.4±4.9) increased compared with preoperative score (43.3±7.8),the difference was significant(P<0.05).ConclusionThe curative effect of arthroscopy combined with Brostrom repair in treatment of chronic ankle instability talofibular ligament injury is satifactory.It can be helpful to the wounded rapid rehabilitation and good for the popularization and application in basic-level hospitals.

Objective To investigate the clinical significance of serum interleukin-6(IL-6),C-reactive protein(CRP) and procalcitonin(PCT) in early diagnosis of postoperative infection after artificial femoral head replacement in rabbits.Methods Selected 64 healthy New Zealand white rabbits,and randomly divided them into the experimental group and the control group,with 32 cases in each group.All of the 64 rabbits underwent left femoral hip replacement.Rabbits in the experimental group were injected with staphylococcus aureus into the left hip joint immediately after artificial femoral head replacement,while rabbits in control group were injected with the same amount of saline.The changes of IL-6,CRP and PCT in synovial fluid of all rabbits were measured.Took synovial fluid and 3 pieces of synovial membrane to make bacterial culture 9 days after surgery.Results The bacterial culture of the experimental group was positive for staphylococcus aureus while it was negative in the control group.One day after surgery,the levels of IL-6,CRP and PCT in synovial fluid of two groups were significantly higher than those before operation(P<0.05),but the difference between the two groups was not statistically significant(P>0.05).The levels of IL-6,CRP and PCT in the synovial fluid of the experimental group were significantly higher than those of the control group at the 3rd,6th and 9th day after operation(P<0.05).There was a significant increase in IL-6,CRP and PCT levels in the two groups at the first and 3rd day after operation(P<0.05).At 6th days after operation,the levels of IL-6,CRP and PCT in synovial fluid of experimental group continued to increase(P<0.05),and they began to decrease in the control group (P<0.05).PCT gradually restored preoperative level at 6th days after operation(P>0.05),and IL-6 and CRP gradually restored preoperative level at 9th days after operation(P>0.05).The sensitivity and specificity of IL-6,CRP and PCT combined test were 96.9% and 90.6% respectively,which were significantly higher than those of individual indexes.Conclusion Combined detection of serum IL-6,CRP and PCT levels in the infection model of artificial femoral head replacement can provide some help for the early diagnosis of infection after clinical hip arthroplasty.

Objective To investigate the reliability and validity of Hospice care quality assessment scale. Methods Eight experts in the field of hospice revised the Scale after Chinese localization. The scale data were analyzed after collation of 181 families fulfill the scale. Results The total scale Cronbach′s a coefficient was 0.851. The first dimension′s coefficient was 0.796. The second dimension′s coefficient was 0.622 and the third dimension′s coefficient was 0.827. In factor analysis of the scale, after varimax rotation, the number of characteristic roots>1 was 10 and made up of 70.88%of the total variance. Conclusions The hospice care quality assessment scale after Chinese localization has good reliability and validity and could be a tool to evaluate the clinical quality of care for dying patients.

Objective:To explore the current status and influencing factors of self-management in colorectal cancer patients with stoma.Methods:From June to September 2022, a total of 390 colorectal cancer patients with stoma at a Class Ⅲ Grade A hospital in Tianjin were selected as study subjects using convenience sampling method, and were investigated by General Information Questionnaire, Enterostomy Self-Management Questionnaire, Connor-Davidson Resilience Scale, and Acceptance of Disability Scale. Pearson correlation analysis was used to investigate the correlation between self-management, psychological resilience and stoma acceptance of colorectal cancer patients with stoma. Multiple linear regression analysis was used to explore the influencing factors of self-management in colorectal cancer patients with stoma. A total of 390 questionnaires were distributed in this study, and 386 valid questionnaires were collected, with an effective response rate of 98.97% (386/390) .Results:The self-management, psychological resilience and stoma acceptance score of colorectal cancer patients with stoma was (99.07±12.40), (69.43±9.76), (82.00±10.56). Pearson correlation analysis results showed that the score of self-management in colorectal cancer patients with stoma was positively correlated with psychological resilience and stoma acceptance scores ( r=0.640, 0.727; P<0.01). The results of multiple linear regression showed that age, time after enterostomy, tumor node metastasis (TNM) staging, postoperative radiation and chemotherapy, psychological resilience, and stoma acceptance were the influencing factors of self-management in colorectal cancer patients with stoma ( P<0.05) . Conclusions:The self-management of colorectal cancer patients with stoma is at a moderate level and needs to be improved. Medical and nursing staff should take targeted intervention measures to improve patients' self-management and quality of life.

Objective:To investigate the chain mediation effect of psychological flexibility and dyadic coping between perceived social support and family function in parents of pediatric liver transplant recipients.Methods:Totally 320 parents of pediatric liver transplant recipients who were treated at the Department of Pediatric Organ Transplantation, Tianjin First Central Hospital from April to October 2023 were selected by convenience sampling. The participants were surveyed using a general information questionnaire, the Perceived Social Support Scale (PSSS), the Acceptance and Action Questionnaire-Ⅱ (AAQ-Ⅱ), the Dyadic Coping Inventory (DCI), and the Family APGAR Index (APGAR). Pearson correlation analysis was used to examine the relationships between perceived social support, psychological flexibility, dyadic coping, and family function in these parents. Structural equation modeling (SEM) was performed using Amos 26.0 to analyze the chain mediation effect of psychological flexibility and dyadic coping between perceived social support and family function, with the Bootstrap method used for model testing.Results:A total of 320 questionnaires were distributed, with 312 valid responses, yielding a response rate of 97.50% (312/320). The scores for the 312 parents were as follows: PSSS (59.29±15.64), AAQ-Ⅱ (20.35±9.07), DCI (124.64±32.65), and APGAR (6.98±2.74). Family function was positively correlated with perceived social support and dyadic coping ( P<0.01), and perceived social support was positively correlated with dyadic coping ( P<0.01). Psychological flexibility was negatively correlated with family function, perceived social support, and dyadic coping ( P<0.01). SEM results showed that psychological flexibility and dyadic coping had a significant chain mediation effect between perceived social support and family function, with a mediation effect value of 0.059. The chain mediation effect of psychological flexibility and dyadic coping accounted for 13.81% of the total effect (0.059/0.427) . Conclusions:Perceived social support directly affects family function in parents of pediatric liver transplant recipients and also indirectly influences family function through the chain mediation effect of psychological flexibility and dyadic coping.

Objective To investigate the analgesic effects of inhaling 50% nitrous oxide on burn pediatric patients during and after dressing change. Methods A total of 120 burn pediatric patients received outpatient dressing and hospitalized from September 2012 to September 2014 were enrolled in our study, and they were all in accordance with the inclusion criteria. The 120 pediatric patients were divided into control group (n=30) treated with inhalation of oxygen during dressing change) and treatment group (n=90) treated with inhalation of 50% nitrous oxide during dressing change ) according to the computer-generated list of random number. The other treatments in control group and treatment group were the same. Before, during and after dressing change, degree of pain, heart rate, systolic blood pressure, diastolic blood pressure, oxygen saturation and adverse effects were observed at the same time points. Data were processed with analysis of chi-square test, covariance and Student′s t test. Results There were no significant differences between the two groups in levels of HR, SBP, DBP, and SpO2 before dressing change (t=0. 34, 0. 57, 0. 11, 0. 98, respectively;P>0. 05). Compared with those of control group, levels of HR, SBP, DBP, and SpO2 in treatment group were significantly ameliorated during dressing change (t=25. 96, 24. 11, 8. 37, 20. 29, respectively;P<0. 01). After dressing change, the levels of DBP in the two groups were close (t=1. 57,P>0. 05), but the levels of HR, SBP, and SpO2 showed statistical differences (t=5. 20, 8. 64, 3. 37, respectively;P<0. 01). Before dressing change, the pain scores were approximate between control group and treatment group (t=0. 18,P>0. 05). Compared with those in control group, the pain scores in treatment group during and after dressing change were (2. 82 ± 0.8) and (1.2 ±0. 84), which were significantly lower than those in the control group (t =23. 00, 4. 30, respectively;P<0. 01). There were no obvious adverse effects in two groups during and after dressing change. The results of the covariance analysis of pain scores during dressing change showed statistical differences ( F=867. 956,P <0. 01). Conclusions 50% nitrous oxide seems to have obvious analgesic effects on burns pediatric patients during dressing change, and it can be widely used.